Publications by authors named "S Vasseur"
Article Synopsis
- Spinal muscular atrophy (SMA) is a genetic disorder caused by the loss or mutation of the SMN1 gene, leading to muscle weakness and neuromuscular symptoms.* -
- Recent advancements in SMA treatment have introduced three new therapies, including Risdiplam and Nusinersen, but patients still face challenges like muscle fatigue and limited mobility.* -
- A study analyzing muscle tissue from Type II SMA patients revealed mitochondrial dysfunction and cellular stress, suggesting potential new targets for future combination therapies.*
Article Synopsis
- ALS is a disease that affects nerve cells and usually leads to severe muscle problems and a short life expectancy of 3-5 years.
- The study explored how cholesterol and its levels in muscle might relate to the problems caused by ALS, showing that ALS patients had more cholesterol in their muscles.
- Researchers noticed that certain genes related to cholesterol movement were overactive in ALS patients, suggesting that cholesterol buildup might be linked to the severity of their muscle issues.
Hereditary sensory and autonomic neuropathy type 1 is an autosomal dominant neuropathy caused by the or variants. These variants modify the preferred substrate of serine palmitoyl transferase, responsible for the first step of sphingolipids synthesis, leading to accumulation of cytotoxic deoxysphingolipids. Diagnosis of HSAN1 is based on clinical symptoms, mainly progressive loss of distal sensory keep, and genetic analysis.
View Article and Find Full Text PDFThe Omicron variant differs from earlier strains of SARS-CoV-2 in the way it enters host cells and grows . We therefore reevaluated its diagnosis using saliva, nasopharyngeal swab (NPs), and anterior nasal swab (ANs) specimens from 202 individuals (64.9% symptomatic) tested at the Toulouse University Hospital SARS-CoV-2 drive-through testing center.
View Article and Find Full Text PDFLipids are essential constituents for malignant tumors, as they are absolutely required for tumor growth and dissemination. Provided by the tumor microenvironment (TME) or by cancer cells themselves through activation of de novo synthesis pathways, they orchestrate a large variety of pro-tumorigenic functions. Importantly, TME cells, especially immune cells, cancer-associated fibroblasts (CAFs) and cancer-associated adipocytes (CAAs), are also prone to changes in their lipid content, which hinder or promote tumor aggressiveness.
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